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Myo3a Gene Detail
Summary
  • Symbol
    Myo3a
  • Name
    myosin IIIA
  • Synonyms
    9030416P08Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2183924
    NCBI Gene: 667663
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:22232314-22508264 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 15.15 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1270 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2183924
 protein coding gene Chr2:22232314-22508264 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025390
 protein coding gene Chr2:20051632-20327105 (+)
A/J MGP_AJ_G0025368
 protein coding gene Chr2:19236661-19506399 (+)
AKR/J MGP_AKRJ_G0025336
 protein coding gene Chr2:19904229-20205272 (+)
BALB/cJ MGP_BALBcJ_G0025363
 protein coding gene Chr2:19329206-19618562 (+)
C3H/HeJ MGP_C3HHeJ_G0025123
 protein coding gene Chr2:19828851-20113648 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025806
 protein coding gene Chr2:20634019-20924201 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023221
 protein coding gene Chr2:18380986-18610095 (+)
CAST/EiJ MGP_CASTEiJ_G0024587
 protein coding gene Chr2:19755177-20035162 (+)
CBA/J MGP_CBAJ_G0025102
 protein coding gene Chr2:21410232-21717029 (+)
DBA/2J MGP_DBA2J_G0025234
 protein coding gene Chr2:19153091-19408545 (+)
FVB/NJ MGP_FVBNJ_G0025197
 protein coding gene Chr2:18935766-19196708 (+)
LP/J MGP_LPJ_G0025321
 protein coding gene Chr2:19850101-20275571 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025228
 protein coding gene Chr2:21417486-21771017 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025864
 protein coding gene Chr2:19799942-20084918 (+)
PWK/PhJ MGP_PWKPhJ_G0024336
 protein coding gene Chr2:18964162-19221099 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024136
 protein coding gene Chr2:19946334-20216149 (+)
WSB/EiJ MGP_WSBEiJ_G0024657
 protein coding gene Chr2:19851275-20238498 (+)



Homology
more
  • Human Ortholog
    MYO3A, myosin IIIA
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MYO3A, myosin IIIA
  • Synonyms
    DFNA90, DFNB30
  • Links
    NCBI Gene ID: 53904
    neXtProt AC: NX_Q8NEV4
    UniProt: Q8NEV4

  • Chr Location
    10p12.1; chr10:25934229-26212532 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Myo3a mouse models; 1 with human MYO3A associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 3 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a nonsense mutation characteristic of human DFNB30 exhibit progressive hearing loss and cochlear hair cell degeneration. Mice homozygous for a null allele show normal hair bundle organization/structure in auditory organs, normal hearing thresholds, and no overt vestibular dysfunction.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    58
  • GO References
    11
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    715
  • Tissues
    6
  • cDNA Data
    3
  • Literature Summary
    3
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 667663 NCBI Gene Model | MGI Sequence Detail 275951 C57BL/6J ±  kb
transcript NM_148413 RefSeq | MGI Sequence Detail 5465 C57BL/6  
polypeptide Q8K3H5 UniProt | EBI | MGI Sequence Detail 1613 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 4
    cDNA 3
    Primer pair 1

    Microarray probesets 2
Other
Accession IDs
less
MGI:1918799
References
more
  • Summaries
    All 36
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 11
    Phenotypes 9
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:278835 Li P, et al., Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear. Neural Plast. 2018;2018:4372913
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory